developmental and epileptic encephalopathy 16

Summary

DOID:0080449 - developmental and epileptic encephalopathy 16

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.

Synonyms: DEE16, early infantile epileptic encephalopathy 16

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbc1d24, tbc1d24.2

MIM:

MIM:615338 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16

MIM:615338 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), developmental and epileptic encephalopathy (is_a)